Canonical Allele Identifier: CA2102689196

Gene: TBC1D4

Linked Data

• dbSNP Id: rs1877569570
• gnomAD v4: 13-75309934-T-C

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.75309934T>C , CM000675.2:g.75309934T>C	GRCh38
NC_000013.10:g.75884070T>C , CM000675.1:g.75884070T>C	GRCh37
NC_000013.9:g.74782071T>C	NCBI36
NG_042850.1:g.177235A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000377636.8:c.2593+8A>G MANE Select	ENSP00000366863.3:n.2593+8A>G
ENST00000648194.1:c.1861+8A>G	ENSP00000496983.1:n.1861+8A>G
ENST00000377625.6:c.2404+8A>G	ENSP00000366852.2:n.2404+8A>G
ENST00000377636.7:c.2593+8A>G	ENSP00000366863.3:n.2593+8A>G
ENST00000431480.6:c.2569+8A>G	ENSP00000395986.2:n.2569+8A>G
ENST00000493487.1:n.452+8A>G
NM_001286658.1:c.2569+8A>G	NP_001273587.1:n.2569+8A>G
NM_001286658.2:c.2569+8A>G	NP_001273587.1:n.2569+8A>G
NM_001286659.1:c.2404+8A>G	NP_001273588.1:n.2404+8A>G
NM_001286659.2:c.2404+8A>G	NP_001273588.1:n.2404+8A>G
NM_014832.3:c.2593+8A>G	NP_055647.2:n.2593+8A>G
NM_014832.4:c.2593+8A>G	NP_055647.2:n.2593+8A>G
XM_005266603.1:c.2518+8A>G	XP_005266660.1:n.2518+8A>G
XM_005266605.1:c.2050+8A>G	XP_005266662.1:n.2050+8A>G
XM_006719903.2:c.2119+8A>G	XP_006719966.1:n.2119+8A>G
XM_011535331.1:c.2482+8A>G	XP_011533633.1:n.2482+8A>G
XM_005266603.2:c.2518+8A>G	XP_005266660.1:n.2518+8A>G
XM_005266605.3:c.2050+8A>G	XP_005266662.1:n.2050+8A>G
XM_006719903.3:c.2119+8A>G	XP_006719966.1:n.2119+8A>G
XM_011535331.2:c.2482+8A>G	XP_011533633.1:n.2482+8A>G
XM_017020882.2:c.1861+8A>G	XP_016876371.1:n.1861+8A>G
XM_017020883.2:c.1750+8A>G	XP_016876372.1:n.1750+8A>G
XM_017020884.2:c.160+8A>G	XP_016876373.1:n.160+8A>G
NM_014832.5:c.2593+8A>G MANE Select	NP_055647.2:n.2593+8A>G